Actelion has been boosted by the news that advisors to the US Food and Drug Administration have backed the Swiss firm’s Gaucher disease therapy Zavesca for a rare genetic disease that causes a toxic build-up of certain lipids in cells.

The FDA’s Endocrinologic and Metabolic Drugs Advisory Committee voted 10 to three in favour of the benefit/risk profile of Zavesca (miglustat) for the treatment of progressive neurological manifestations in adult patients and pediatric patients with Niemann-Pick type C (NP-C) disease. Actelion noted that the latter is “a very rare, relentlessly progressive and eventually fatal neurodegenerative genetic disorder for which no specific treatment is currently approved in the USA”.

NP-C disease primarily affects children and teenagers and caused by the storage of some lipids, such as glycosphingolipids and cholesterol, within certain tissues in the body, including the brain. Actelion said “it is invariably progressive and most patients die within five to ten years of diagnosis” and “for the majority, the disease is fatal during childhood”. NP-C can manifest itself as clumsy body movements, balance problems, slow and slurred speech, difficulty in swallowing, problems with eye movements and seizures. Intellectual decline is also common.

The panel’s recommendation is based on results from a trial called OGT 918-007 and two multicentre NP-C disease cohort studies as well as other clinical trials in related lysosomal storage disorders for the safety and tolerability evaluation. The company’s own study failed to meet its main effectiveness endpoint but a member of the committee, Katherine Flegal of the US Centers for Disease Control and Prevention, said “the risk from the drug is not devastating, but the disease is devastating. I think patients deserve an opportunity to see if they can benefit”.

Zavesca is already approved in the USA and Europe for mild to moderate type 1 Gaucher disease in patients for whom enzyme replacement therapy is unsuitable. The drug got the green light in Europe for NP-C disease, which is known to affect just 500 patients and about 200 in the USA ,a year ago. It is, however, expensive and reports say the treatment costs almost $160,000 per year per patient.